Canonical Allele Identifier: CA1981839930

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72106144A= , CM000673.2:g.72106144A= GRCh38
NC_000011.9:g.71817190A= , CM000673.1:g.71817190A= GRCh37
NC_000011.8:g.71494838A= NCBI36
NG_021423.1:g.30809A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000541899.3:c.193A= (TOMT) MANE Select ENSP00000494667.1:p.Ile65=
ENST00000541899.2:c.193A= (TOMT) ENSP00000494667.1:p.Ile65=
ENST00000643715.1:c.438-2461A= (LRTOMT) ENSP00000496019.1:n.438-2461A=
ENST00000646163.1:c.*11A= (LRTOMT) ENSP00000494749.1:n.*11A=
ENST00000307198.11:c.292A= (LRRC51) ENSP00000305742.7:p.Ile98=
ENST00000419228.2:c.172A= (LRRC51) ENSP00000392233.2:p.Ile58=
ENST00000427369.6:c.*11A= (LRRC51) ENSP00000409403.2:n.*11A=
ENST00000435085.5:c.292A= (LRRC51) ENSP00000409789.1:p.Ile98=
ENST00000439209.5:c.438-2461A= (LRRC51) ENSP00000395139.1:n.438-2461A=
ENST00000541899.1:n.350A= (LRRC51)
ENST00000544409.5:c.*11A= (LRRC51) ENSP00000440969.1:n.*11A=
NM_001145308.4:c.292A= (LRTOMT) NP_001138780.1:p.Ile98=
NM_001145309.3:c.292A= (LRTOMT) NP_001138781.1:p.Ile98=
NM_001145310.3:c.172A= (LRTOMT) NP_001138782.1:p.Ile58=
XM_011544849.1:c.517A= (LRTOMT) XP_011543151.1:p.Ile173=
XM_024448401.1:c.517A= (LRTOMT) XP_024304169.1:p.Ile173=
NM_001145308.5:c.292A= (LRTOMT) NP_001138780.1:p.Ile98=
NM_001145309.4:c.292A= (LRTOMT) NP_001138781.1:p.Ile98=
NM_001145310.4:c.172A= (LRTOMT) NP_001138782.1:p.Ile58=
NM_001393500.1:c.193A= (TOMT) NP_001380429.1:p.Ile65=
NM_001393500.2:c.193A= (TOMT) MANE Select NP_001380429.1:p.Ile65=